The Canadian journal of cardiology
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Comparative Study
Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.
Ventricular fibrillation is one of the leading causes of death in North America. Brugada syndrome is characterized by ST segment elevation on the right precordial leads V1 through V3 and right bundle branch block, and may cause sudden death. Mutations in the SCN5A gene encoding the cardiac voltage-gated Na+ channel (hNav1.5) are associated with Brugada syndrome. ⋯ This study confirms that the loss of function of cardiac Na+ channels is the basis of the Brugada syndrome clinical phenotype.
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A 75-year-old man had a significant mitral paravalvular leak following unsuccessful mitral valve repair at age 71 years and mitral valve replacement two years later. He was referred for percutaneous closure, which was performed with an atrial septal defect occluder device. Subsequently, a small residual leak was closed with an embolization coil. A novel technique for identifying the paravalvular leak with simultaneous transesophageal and radiographic guidance is described.